ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+299A>G

gnomAD frequency: 0.00004  dbSNP: rs1027861663
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531705 SCV000647865 likely benign Brugada syndrome 5 2023-07-07 criteria provided, single submitter clinical testing
GeneDx RCV001536245 SCV001752974 benign not provided 2016-01-28 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700412 SCV001922431 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001536245 SCV001951290 likely benign not provided no assertion criteria provided clinical testing

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